ClinVar Miner

List of variants reported as uncertain significance for TTN-related myopathy by Suma Genomics

Included ClinVar conditions (41):

Autosomal dominant centronuclear myopathy; Myopathy, centronuclear, 5
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy
Autosomal recessive titinopathy
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal dominant centronuclear myopathy; Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Early-onset myopathy with fatal cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy; Congenital titinopathy
Hypertrophic cardiomyopathy 9
Hypertrophic cardiomyopathy 9; TTN-related myopathy; Autosomal recessive titinopathy; Autosomal dominant titinopathy
Myopathy, centronuclear, 2
Myopathy, centronuclear, 5
Myopathy, myofibrillar, 9, with early respiratory failure
Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal recessive centronuclear myopathy
Primary dilated cardiomyopathy; Myopathy, centronuclear, 2; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related myopathy
Tibial muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)	rs146572907	0.00001
NM_000540.3(RYR1):c.2682G>C (p.Pro894=)	rs919322708
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer)	rs1575175498
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg)	rs2154299294
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu)	rs1376293618

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